Tbx2 MGI Mouse Gene Detail - MGI:98494

Symbol

Tbx2
Name

T-box 2

Feature Type

protein coding gene
IDs

MGI:98494
NCBI Gene: 21385
Alliance

gene page
Transcription Start Sites

9 TSS

Sequence Map

Chr11:85723441-85732774 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 51.34 cM
Mapping Data

5 experiments

SNPs within 2kb

203 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_98494	protein coding gene	Chr11:85723377-85732774 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018883	protein coding gene	Chr11:87363722-87373137 (+)
A/J	MGP_AJ_G0018850	protein coding gene	Chr11:84005363-84014749 (+)
AKR/J	MGP_AKRJ_G0018820	protein coding gene	Chr11:86522082-86531491 (+)
BALB/cJ	MGP_BALBcJ_G0018823	protein coding gene	Chr11:84389219-84398616 (+)
C3H/HeJ	MGP_C3HHeJ_G0018637	protein coding gene	Chr11:86543875-86553261 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0019275	protein coding gene	Chr11:90015593-90024990 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016908	protein coding gene	Chr11:81046330-81055682 (+)
CAST/EiJ	MGP_CASTEiJ_G0018192	protein coding gene	Chr11:87201916-87211318 (+)
CBA/J	MGP_CBAJ_G0018608	protein coding gene	Chr11:93812364-93821750 (+)
DBA/2J	MGP_DBA2J_G0018716	protein coding gene	Chr11:83578787-83588180 (+)
FVB/NJ	MGP_FVBNJ_G0018705	protein coding gene	Chr11:83077515-83086912 (+)
LP/J	MGP_LPJ_G0018786	protein coding gene	Chr11:87860974-87870360 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018732	protein coding gene	Chr11:93930089-93939486 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019315	protein coding gene	Chr11:86764158-86773538 (+)
PWK/PhJ	MGP_PWKPhJ_G0017961	protein coding gene	Chr11:84360778-84370164 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0017753	protein coding gene	Chr11:86306407-86315979 (+)
WSB/EiJ	MGP_WSBEiJ_G0018243	protein coding gene	Chr11:86615983-86625380 (+)

Human Ortholog

TBX2, T-box transcription factor 2

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TBX2, T-box transcription factor 2
Synonyms

VETD
Links

HGNC:11597

NCBI Gene ID: 6909

neXtProt AC: NX_Q13207

UniProt: Q13207
Chr Location

17q23.2; chr17:61399843-61409466 (+) GRCh38

MGI Vertebrate Homology

Tbx2 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: TBX2
Gene Tree

Tbx2

Diseases

3 with human TBX2 associations

				Human Disease	Mouse Models
				atrial heart septal defect IDs atrial heart septal defect DOID:1882 ICD10CM:Q21.1 MESH:D006344 NCI:C84473 OMIM:PS108800 ORDO:1478 UMLS_CUI:C0018817
				heart septal defect IDs heart septal defect DOID:1681 ICD10CM:Q21.9 MESH:D006343 NCI:C84482 UMLS_CUI:C0018816
				vertebral anomalies and variable endocrine and T-cell dysfunction IDs vertebral anomalies and variable endocrine and T-cell dysfunction DOID:0070345 OMIM:618223

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

20 phenotypes from 4 alleles in 6 genetic backgrounds
6 phenotypes from multigenic genotypes
1 images
44 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

19
Chemically induced (other)

1
Endonuclease-mediated

8
Targeted

9
Genomic Mutations

2 involving Tbx2
Find Mice (IMSR)

29 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mice display embryonic lethality with abnormal cardiac and vascular development, edema, and polydactyly.

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All GO Annotations

87
GO References

24

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

1387
Tissues

381
cDNA Data

59
Literature Summary

154

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase tbx2

ZFIN tbx2a, tbx2b

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All Sequences

36
RefSeq

2
UniProt

2
CCDS

CCDS36266.1

Ensembl

ENSMUSG00000000093 (Evidence)
NCBI Gene

21385

			Length	Strain/Species	Flank
genomic	21385	NCBI Gene Model \| MGI Sequence Detail	9334	C57BL/6J	± kb
transcript	NM_009324	RefSeq \| MGI Sequence Detail	3562	ZRU/MplStud
polypeptide	Q60707	UniProt \| EBI \| MGI Sequence Detail	711	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000016148 T-box transcription factor TBX2

(term hierarchy)
InterPro Domains

IPR008967 p53-like transcription factor, DNA-binding domain superfamily

IPR036960 T-box superfamily

IPR001699 T-box transcription factor

IPR048387 T-box transcription factor 2/3, repressor domain

IPR022582 T-box transcription factor 2/3, transcription activation domain

IPR046360 T-box transcription factor, DNA-binding domain

IPR002070 Transcription factor, Brachyury

IPR018186 Transcription factor, T-box, conserved site

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All nucleic 86

Genomic 4

cDNA 60

Primer pair 4

Other 18

Microarray probesets 5

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MGD-MRK-14731

Summaries

All 223

Developmental Gene Expression 154

Gene Ontology 24

Phenotypes 44
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:351380 Bi Z, et al., Revisiting the Potency of Tbx2 Expression in Transforming Outer Hair Cells into Inner Hair Cells at Multiple Ages In Vivo. J Neurosci. 2024 Jun 5;44(23)

TSS for Tbx2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr103852	Chr11:85721775-85721787 (+)	-1,660 bp
Tssr103853	Chr11:85722052-85722092 (+)	-1,369 bp
Tssr103854	Chr11:85722582-85722601 (+)	-849 bp
Tssr103855	Chr11:85722617-85722631 (+)	-817 bp
Tssr103856	Chr11:85723587-85723602 (+)	154 bp
Tssr103857	Chr11:85723627-85723653 (+)	199 bp
Tssr103858	Chr11:85723665-85723676 (+)	230 bp
Tssr103859	Chr11:85723751-85723775 (+)	322 bp
Tssr103860	Chr11:85723793-85723812 (+)	362 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24